Canonical Allele Identifier: CA691018723
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1387550571
gnomAD v4: 12-65246382-C-A
MyVariant Identifiers: chr12:g.65640162C>A (hg19) chr12:g.65246382C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246382C>A , CM000674.2:g.65246382C>A GRCh38
NC_000012.11:g.65640162C>A , CM000674.1:g.65640162C>A GRCh37
NC_000012.10:g.63926429C>A NCBI36
NG_016210.1:g.81812C>A
NG_016210.2:g.81812C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*57C>A MANE Select ENSP00000308369.2:n.*57C>A
ENST00000308330.2:c.*57C>A ENSP00000308369.2:n.*57C>A
ENST00000539442.1:n.775C>A
ENST00000545026.1:n.611C>A
NM_001167614.1:c.*57C>A NP_001161086.1:n.*57C>A
NM_014319.4:c.*57C>A NP_055134.2:n.*57C>A
NM_014319.5:c.*57C>A MANE Select NP_055134.2:n.*57C>A
NM_001167614.2:c.*57C>A NP_001161086.1:n.*57C>A
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